Incidental Mutation 'R9404:Ppp2r3d'
ID 711415
Institutional Source Beutler Lab
Gene Symbol Ppp2r3d
Ensembl Gene ENSMUSG00000093803
Gene Name protein phosphatase 2 (formerly 2A), regulatory subunit B'', delta
Synonyms Ppp2r3, PR59, Ppp2r3a
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.361) question?
Stock # R9404 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 124195827-124204759 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101025840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 289 (L289P)
Ref Sequence ENSEMBL: ENSMUSP00000069688 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066773] [ENSMUST00000075941]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000066773
AA Change: L289P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069688
Gene: ENSMUSG00000043154
AA Change: L289P

DomainStartEndE-ValueType
Blast:EFh 140 169 1e-9 BLAST
Pfam:EF-hand_7 282 380 2.6e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000075941
AA Change: L909P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075327
Gene: ENSMUSG00000043154
AA Change: L909P

DomainStartEndE-ValueType
low complexity region 248 266 N/A INTRINSIC
Blast:EFh 760 789 1e-9 BLAST
Pfam:EF-hand_7 902 1000 2.5e-17 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 T C 4: 106,615,509 (GRCm39) K314R possibly damaging Het
Armt1 AC A 10: 4,400,848 (GRCm39) probably null Het
Atad5 T C 11: 80,005,064 (GRCm39) V1167A probably damaging Het
Bbs12 T C 3: 37,373,557 (GRCm39) S2P probably damaging Het
Cdh11 A T 8: 103,406,254 (GRCm39) L73Q probably damaging Het
Cdk15 A G 1: 59,328,914 (GRCm39) E274G possibly damaging Het
Col27a1 T C 4: 63,194,178 (GRCm39) V845A possibly damaging Het
Cyp3a11 T C 5: 145,799,258 (GRCm39) T310A probably benign Het
Efcab5 G A 11: 77,022,934 (GRCm39) T593I probably damaging Het
Ewsr1 A G 11: 5,022,940 (GRCm39) M388T unknown Het
Fat2 A G 11: 55,144,348 (GRCm39) probably null Het
Gm8225 T A 17: 26,762,034 (GRCm39) I75N probably damaging Het
Gsap A G 5: 21,474,919 (GRCm39) Y526C probably damaging Het
Hk1 T A 10: 62,131,859 (GRCm39) I203F possibly damaging Het
Insl5 T C 4: 102,875,535 (GRCm39) R72G probably benign Het
Iqcb1 T C 16: 36,671,632 (GRCm39) V321A probably damaging Het
Iqcd A C 5: 120,738,601 (GRCm39) T140P Het
Kcnt2 T A 1: 140,353,107 (GRCm39) I272K probably damaging Het
Klhl25 A C 7: 75,515,153 (GRCm39) I20L probably benign Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lrba T C 3: 86,205,224 (GRCm39) V356A probably damaging Het
Mast4 A G 13: 102,887,933 (GRCm39) Y1159H probably damaging Het
Mavs T A 2: 131,083,818 (GRCm39) L105Q probably damaging Het
Megf6 T A 4: 154,348,225 (GRCm39) C902S Het
Mmp17 A G 5: 129,682,741 (GRCm39) D460G possibly damaging Het
Myh2 G T 11: 67,070,454 (GRCm39) A466S probably damaging Het
Neb T C 2: 52,147,788 (GRCm39) N2744D probably damaging Het
Oga CTCGGGTC CTC 19: 45,743,096 (GRCm39) probably null Het
Or13a26 T A 7: 140,284,722 (GRCm39) L186H probably damaging Het
Or2a12 T C 6: 42,904,750 (GRCm39) V195A probably benign Het
Or2aj4 C T 16: 19,384,731 (GRCm39) V301M probably benign Het
Or4a27 T A 2: 88,559,551 (GRCm39) M131L probably benign Het
Or6d13 T G 6: 116,517,708 (GRCm39) I98S probably damaging Het
Or8g55 A T 9: 39,784,708 (GRCm39) I46F possibly damaging Het
Parpbp A G 10: 87,950,411 (GRCm39) V323A possibly damaging Het
Pax5 G A 4: 44,645,565 (GRCm39) P255S possibly damaging Het
Pcdhga2 A G 18: 37,803,067 (GRCm39) T304A probably benign Het
Pcsk1 T G 13: 75,280,342 (GRCm39) S722R probably benign Het
Pcsk9 C A 4: 106,311,723 (GRCm39) R218L probably damaging Het
Pds5a T A 5: 65,776,307 (GRCm39) I96F probably damaging Het
Pkdrej C A 15: 85,703,270 (GRCm39) V889L probably benign Het
Plekhh2 A T 17: 84,878,468 (GRCm39) probably null Het
Pnn A G 12: 59,118,758 (GRCm39) E447G probably damaging Het
Ppp6r2 A G 15: 89,152,753 (GRCm39) H298R probably benign Het
Ptpn23 T C 9: 110,216,025 (GRCm39) N1277S Het
Pus10 T A 11: 23,661,202 (GRCm39) F263L possibly damaging Het
Rexo5 A G 7: 119,400,542 (GRCm39) Y109C probably damaging Het
Rnf185 A T 11: 3,382,615 (GRCm39) C23* probably null Het
Runx1 T C 16: 92,485,915 (GRCm39) N140D probably benign Het
Sbf2 T C 7: 110,040,702 (GRCm39) Q375R possibly damaging Het
Scn9a G A 2: 66,357,040 (GRCm39) T1087I probably benign Het
Sh2b1 TGGGGACCAGCTCAGCCACGGGGACCAGCTC TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,742 (GRCm39) probably benign Het
Sh2b1 TC TCAGCCACGGGGACCAGCCC 7: 126,066,771 (GRCm39) probably benign Het
Slc7a11 T C 3: 50,335,488 (GRCm39) H350R possibly damaging Het
Spaca6 T C 17: 18,057,800 (GRCm39) C155R probably damaging Het
Spire2 C T 8: 124,090,077 (GRCm39) R580* probably null Het
Srgap3 A T 6: 112,706,616 (GRCm39) M851K probably benign Het
Themis A G 10: 28,665,743 (GRCm39) D602G probably benign Het
Tlcd4 T C 3: 121,028,731 (GRCm39) N52S probably benign Het
Trak2 T C 1: 58,960,296 (GRCm39) T236A possibly damaging Het
Trrap T C 5: 144,752,225 (GRCm39) C1709R possibly damaging Het
Ttn A T 2: 76,584,500 (GRCm39) S22203T probably damaging Het
Tut7 A T 13: 59,947,701 (GRCm39) N873K probably benign Het
Ube3a A G 7: 58,936,763 (GRCm39) T701A probably damaging Het
Ufl1 T C 4: 25,275,912 (GRCm39) I164V probably benign Het
Vcpip1 T C 1: 9,817,856 (GRCm39) T176A probably damaging Het
Virma T A 4: 11,513,626 (GRCm39) D493E probably benign Het
Vmn2r77 T A 7: 86,451,247 (GRCm39) W378R probably benign Het
Vps13b A T 15: 35,876,565 (GRCm39) T2799S probably damaging Het
Vps8 T C 16: 21,426,927 (GRCm39) S1337P probably benign Het
Zfp235 A T 7: 23,839,862 (GRCm39) I94F possibly damaging Het
Zfp3 A G 11: 70,663,366 (GRCm39) K442E probably damaging Het
Zfp418 A T 7: 7,185,104 (GRCm39) I356F possibly damaging Het
Zfp790 G A 7: 29,525,185 (GRCm39) G68S probably benign Het
Other mutations in Ppp2r3d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00792:Ppp2r3d APN 9 101,088,500 (GRCm39) missense possibly damaging 0.50
IGL01122:Ppp2r3d APN 9 101,088,844 (GRCm39) missense probably benign 0.30
IGL02332:Ppp2r3d APN 9 101,057,602 (GRCm39) missense possibly damaging 0.78
IGL02653:Ppp2r3d APN 9 101,088,892 (GRCm39) missense probably benign 0.13
IGL03329:Ppp2r3d APN 9 101,003,630 (GRCm39) splice site probably benign
IGL03351:Ppp2r3d APN 9 101,088,391 (GRCm39) missense probably benign 0.00
lank UTSW 9 101,075,829 (GRCm39) critical splice donor site probably null
PIT4480001:Ppp2r3d UTSW 9 101,003,576 (GRCm39) missense possibly damaging 0.95
PIT4687001:Ppp2r3d UTSW 9 101,021,579 (GRCm39) missense probably benign 0.00
R0243:Ppp2r3d UTSW 9 101,089,483 (GRCm39) missense probably damaging 1.00
R1004:Ppp2r3d UTSW 9 101,075,829 (GRCm39) critical splice donor site probably null
R1086:Ppp2r3d UTSW 9 101,031,021 (GRCm39) missense possibly damaging 0.67
R1215:Ppp2r3d UTSW 9 101,089,883 (GRCm39) missense probably benign 0.02
R1245:Ppp2r3d UTSW 9 101,071,593 (GRCm39) missense probably damaging 0.99
R1458:Ppp2r3d UTSW 9 101,088,511 (GRCm39) missense probably damaging 1.00
R1682:Ppp2r3d UTSW 9 101,089,505 (GRCm39) missense probably benign 0.00
R1857:Ppp2r3d UTSW 9 101,090,092 (GRCm39) missense probably damaging 0.96
R1972:Ppp2r3d UTSW 9 101,088,976 (GRCm39) missense probably benign 0.00
R2029:Ppp2r3d UTSW 9 101,022,680 (GRCm39) missense probably damaging 1.00
R2076:Ppp2r3d UTSW 9 101,021,570 (GRCm39) missense possibly damaging 0.83
R2135:Ppp2r3d UTSW 9 101,088,757 (GRCm39) missense probably damaging 0.99
R2180:Ppp2r3d UTSW 9 101,004,214 (GRCm39) nonsense probably null
R3155:Ppp2r3d UTSW 9 101,089,559 (GRCm39) missense possibly damaging 0.56
R4190:Ppp2r3d UTSW 9 124,424,123 (GRCm38) unclassified probably benign
R4657:Ppp2r3d UTSW 9 124,476,821 (GRCm38) missense unknown
R4797:Ppp2r3d UTSW 9 101,089,179 (GRCm39) missense probably benign 0.01
R4829:Ppp2r3d UTSW 9 101,089,709 (GRCm39) missense possibly damaging 0.67
R5269:Ppp2r3d UTSW 9 101,031,064 (GRCm39) missense probably damaging 0.98
R5498:Ppp2r3d UTSW 9 124,439,123 (GRCm38) unclassified probably benign
R5820:Ppp2r3d UTSW 9 124,422,765 (GRCm38) missense possibly damaging 0.90
R5917:Ppp2r3d UTSW 9 101,089,183 (GRCm39) missense probably benign 0.10
R5939:Ppp2r3d UTSW 9 101,089,824 (GRCm39) missense probably benign 0.37
R6089:Ppp2r3d UTSW 9 101,088,835 (GRCm39) missense probably benign 0.00
R6254:Ppp2r3d UTSW 9 101,025,786 (GRCm39) missense possibly damaging 0.75
R6574:Ppp2r3d UTSW 9 101,071,584 (GRCm39) missense probably benign 0.03
R6776:Ppp2r3d UTSW 9 101,090,061 (GRCm39) missense probably benign 0.00
R6823:Ppp2r3d UTSW 9 124,439,078 (GRCm38) unclassified probably benign
R6927:Ppp2r3d UTSW 9 101,052,547 (GRCm39) missense probably damaging 1.00
R6986:Ppp2r3d UTSW 9 124,439,080 (GRCm38) nonsense probably null
R7162:Ppp2r3d UTSW 9 124,439,673 (GRCm38) missense
R7189:Ppp2r3d UTSW 9 101,003,621 (GRCm39) missense possibly damaging 0.59
R7190:Ppp2r3d UTSW 9 101,089,726 (GRCm39) missense probably benign 0.11
R7288:Ppp2r3d UTSW 9 101,004,203 (GRCm39) missense probably damaging 0.98
R7292:Ppp2r3d UTSW 9 101,089,871 (GRCm39) missense probably damaging 0.96
R7512:Ppp2r3d UTSW 9 101,052,532 (GRCm39) missense possibly damaging 0.69
R7655:Ppp2r3d UTSW 9 101,088,911 (GRCm39) missense probably benign 0.30
R7656:Ppp2r3d UTSW 9 101,088,911 (GRCm39) missense probably benign 0.30
R7661:Ppp2r3d UTSW 9 124,442,696 (GRCm38) missense
R7666:Ppp2r3d UTSW 9 124,440,873 (GRCm38) missense probably damaging 1.00
R7769:Ppp2r3d UTSW 9 124,439,087 (GRCm38) missense
R8174:Ppp2r3d UTSW 9 101,090,501 (GRCm39) start gained probably benign
R8195:Ppp2r3d UTSW 9 101,090,231 (GRCm39) missense probably damaging 1.00
R8236:Ppp2r3d UTSW 9 124,440,067 (GRCm38) missense
R8344:Ppp2r3d UTSW 9 101,088,985 (GRCm39) missense probably benign 0.03
R8505:Ppp2r3d UTSW 9 124,439,084 (GRCm38) missense
R8720:Ppp2r3d UTSW 9 101,089,084 (GRCm39) missense probably damaging 1.00
R8765:Ppp2r3d UTSW 9 124,439,649 (GRCm38) missense
R8775:Ppp2r3d UTSW 9 101,004,204 (GRCm39) missense probably benign 0.00
R8775-TAIL:Ppp2r3d UTSW 9 101,004,204 (GRCm39) missense probably benign 0.00
R8853:Ppp2r3d UTSW 9 101,090,110 (GRCm39) missense probably benign 0.05
R8958:Ppp2r3d UTSW 9 101,088,634 (GRCm39) missense probably benign
R9069:Ppp2r3d UTSW 9 101,090,006 (GRCm39) missense probably benign 0.02
R9210:Ppp2r3d UTSW 9 101,063,175 (GRCm39) missense probably benign 0.09
R9212:Ppp2r3d UTSW 9 101,063,175 (GRCm39) missense probably benign 0.09
R9300:Ppp2r3d UTSW 9 124,423,977 (GRCm38) missense unknown
R9465:Ppp2r3d UTSW 9 124,442,222 (GRCm38) missense
R9477:Ppp2r3d UTSW 9 124,476,857 (GRCm38) missense
R9538:Ppp2r3d UTSW 9 124,424,007 (GRCm38) missense unknown
R9545:Ppp2r3d UTSW 9 101,089,214 (GRCm39) missense probably benign
R9639:Ppp2r3d UTSW 9 101,022,713 (GRCm39) missense probably benign
R9649:Ppp2r3d UTSW 9 124,440,831 (GRCm38) missense
X0020:Ppp2r3d UTSW 9 101,089,238 (GRCm39) missense probably benign 0.19
Z1176:Ppp2r3d UTSW 9 101,003,588 (GRCm39) missense possibly damaging 0.67
Z1177:Ppp2r3d UTSW 9 124,476,815 (GRCm38) missense unknown
Z1177:Ppp2r3d UTSW 9 124,422,692 (GRCm38) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GGTTATTTACTTACCTCCAAACACC -3'
(R):5'- TTCCTGGCTTGGTACCAAAATC -3'

Sequencing Primer
(F):5'- GGCATGGTGGCACATACCTTTAATC -3'
(R):5'- CCTGGTCTACAAAGTAAGTTCCAGG -3'
Posted On 2022-05-16